Weaver Syndrome Meets The Gene

"For the families among whom we identified the gene, this discovery definitively brings the diagnostic odyssey to a close -- it's DNA confirmation that their children have Weaver syndrome," says Dr. William Gibson, the study's lead investigator.  The gene that causes Weaver syndrome has been found by scientists which could help families who are seeking diagnosis of a child.  "Now we have an answer for these families and we are also in a position to provide answers to other families affected by this rare and difficult disease," says Dr. Gibson. He is available to see new patients clinically for diagnosis of Weaver syndrome. As a result of this discovery, Dr. Gibson's team now offers sequencing of the EZH2 gene on a research basis in partnership with the Ottawa Hospital Research Institute.